HNRNPDL and Au-Kline syndrome: Au-Kline syndrome (AKS) or also known as Okamoto syndrome (Phenotype MIM number: 616580), named after the clinicians who first described the pathology (Au et al., 2018; Okamoto, 2019) and characterized by intellectual disability, facial dysmorphisms, and skeletal malformations is caused by mutation in hnRNP K and has therefore been added to the HNRNP-RNDD list (Gillentine et al., 2021).